Spectrum of childhood dystonia evaluated at a tertiary care center from south India

Abstract

INTRODUCTION: Dystonia is one of the most common hyperkinetic movement disorders observed in children with neurological disorders. The objective of this study was to evaluate the demographic, etiological, and radiological profile of childhood dystonia. METHODS: This study is a retrospective chart review of children with dystonia (onset ≤18 years) who were admitted to our hospital from 2013 to 2017. All the relevant demographic data including the ethnicity, socioeconomic and cultural background, examination findings, electrophysiological, and other investigations were retrieved from the medical records. RESULTS: A total of 814 children were admitted and evaluated in the pediatric ward, of which 85 (38 girls) children had dystonia. Mean age at onset was 6.21 ± 5.21 years. Mean duration of illness was 3.51 ± 4.23 years. Generalized dystonia was noticed in 83.5% followed by focal dystonia in 8.2%. Hemidystonia and segmental dystonia were less commonly seen with 4.7% and 3.5% of cases, respectively. Brain magnetic resonance imaging (MRI) was available in 82 patients; and diagnostic in 56.1% in the form of Wilson’s disease (14.1%) neurodegeneration with brain iron accumulation (14.1%), perinatal insult (8.2%), encephalitis (7.1%), mitochondrial cytopathy (3.5%), glutaric aciduria (2.4%), isovaleric acidemia (1.2%), metachromatic leukodystrophy (1.2%), acute disseminated encephalomyelitis (1.2%), and neuronal ceroid lipofuscinosis (1.2%). Two patients underwent surgical therapy in the form of deep brain stimulation and bilateral pallidotomy. CONCLUSION: Dystonia constitutes 10.4% of pediatric neurological admissions in our study cohort. Generalized dystonia is the commonest subtype. Brain MRI is useful in identifying etiology and it was diagnostic in nearly half of the patients (56.1%).